ALK c.4040G>A ;(p.R1347Q)

Variant ID: 2-29420441-C-T

NM_004304.4(ALK):c.4040G>A;(p.R1347Q)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: ALK: R1347Q
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: ALK: R1347Q
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: ALK: 4040G>A
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Blood-based monitoring identifies acquired and targetable driver HER2 mutations in endocrine-resistant metastatic breast cancer.

Npj Precision Oncology
Medford, Arielle J AJ; Dubash, Taronish D TD; Juric, Dejan D; Spring, Laura L; Niemierko, Andrzej A; Vidula, Neelima N; Peppercorn, Jeffrey J; Isakoff, Steven S; Reeves, Brittany A BA; LiCausi, Joseph A JA; Wesley, Benjamin B; Malvarosa, Giuliana G; Yuen, Megan M; Wittner, Ben S BS; Lawrence, Michael S MS; Iafrate, A John AJ; Ellisen, Leif L; Moy, Beverly B; Toner, Mehmet M; Maheswaran, Shyamala S; Haber, Daniel A DA; Bardia, Aditya A
Publication Date: 2019

Variant appearance in text: ALK: R1347Q
PubMed Link: 31341951
Variant Present in the following documents:
  • Main text
  • 41698_2019_Article_90.pdf
View BVdb publication page



Next-Generation Sequencing of Circulating Tumor DNA Reveals Frequent Alterations in Advanced Hepatocellular Carcinoma.

The Oncologist
Ikeda, Sadakatsu S; Tsigelny, Igor F IF; Skjevik, Åge A ÅA; Kono, Yuko Y; Mendler, Michel M; Kuo, Alexander A; Sicklick, Jason K JK; Heestand, Gregory G; Banks, Kimberly C KC; Talasaz, AmirAli A; Lanman, Richard B RB; Lippman, Scott S; Kurzrock, Razelle R
Publication Date: 2018-05

Variant appearance in text: ALK: R1347Q
PubMed Link: 29487225
Variant Present in the following documents:
  • onco12404.pdf
View BVdb publication page



Analysis of Tissue and Circulating Tumor DNA by Next-Generation Sequencing of Hepatocellular Carcinoma: Implications for Targeted Therapeutics.

Molecular Cancer Therapeutics
Ikeda, Sadakatsu S; Lim, Jordan S JS; Kurzrock, Razelle R
Publication Date: 2018-05

Variant appearance in text: ALK: R1347Q
PubMed Link: 29483209
Variant Present in the following documents:
  • Main text
View BVdb publication page